Spinal Muscular Atrophy (SMA)

The board-certified and fellowship-trained neurologists with Norton Children’s Neuroscience Institute, affiliated with the UofL School of Medicine, are the leading providers of care for children with neuromuscular disorders, including spinal muscular atrophy (SMA), in Louisville, Kentucky, and Southern Indiana.

Norton Children’s Hospital is the pediatric teaching hospital for the University of Louisville School of Medicine. Our physicians are training the next generation of pediatric specialists.

We’ll determine the severity of your child’s SMA and create a treatment plan that minimizes risk, so your child can get back to being a kid.

Our multidisciplinary team, in partnership with the Muscular Dystrophy Association (MDA), sees patients in a single clinic for multiple specialties, including neurology, pulmonology, orthopedics, physical therapy, occupational therapy and speech therapy.

What Is Spinal Muscular Atrophy?

SMA is a genetic disorder that affects the part of the nervous system responsible for carrying signals from the spinal cord to muscles. As a result, the muscles are weak and shrink (called atrophy). SMA affects muscles that control movements of the arms and legs, as well as breathing and posture.

There are different types of SMA, each with a different level of severity. Children with more severe forms typically start to show weakness in infancy. Children with other forms may not have symptoms until their teen years or into adulthood.

SMA Diagnosis

A neurological exam can diagnose SMA. Our team may perform magnetic resonance imaging (MRI) of the brain or spinal cord to evaluate your child for other causes of weakness. Team members may confirm a diagnosis through genetic testing (blood test).

SMA Treatment

Until 2016, treatment to change the course of SMA did not exist. That is when a therapy to help slow or stop the progression of weakness became available. In some cases, the weakness may even subside. Our neurologists have used this groundbreaking treatment in numerous children.

SMA can cause weakness in the muscles that aid in breathing, requiring the child to have assistance with breathing and coughing. Our team may prescribe noninvasive breathing devices, such as a CPAP (continuous positive airway pressure) or BiPAP (bilevel positive airway pressure) device. Additional support may include placement of a tracheostomy (a hole in the breathing tube) and use of a ventilator.

Our orthopedic team also will monitor bone health. Children with SMA are at increased risk for scoliosis.

Why Norton Children’s Neuroscience Institute?

  • The Norton Children’s Hospital Comprehensive Epilepsy Center is a Level 4 epilepsy center, the highest rating available from the National Association of Epilepsy Centers. Norton Children’s Hospital has held this designation since 2013.
  • We are the first in Kentucky and among the first in the nation to use neurostimulation in a pediatric patient.
  • Regional neurology care is available for children across Kentucky and Southern Indiana. We travel to clinics in Bowling Green, Campbellsville, Corbin, Elizabethtown, Frankfort, Owensboro and Paducah, Kentucky; and Evansville, Indiana. We also perform a number of telemedicine visits each week.
  • The specialists with Norton Children’s Neuroscience Institute, affiliated with the UofL School of Medicine, use state-of-the-art technology to treat epilepsy, uncontrollable seizures and deep brain tumors in children who, in the past, would not be candidates for surgery, including:
    • Visualase: Technology that allows neurosurgeons to perform MRI-guided laser ablation surgery. Fewer than two dozen pediatric hospitals in the U.S. offer this technology.
    • Surgical Theater: Virtual reality technology that creates an immersive 3D view of a patient’s brain, allowing neurosurgeons, the patient and family to see inside the skull and brain to get a greater understanding of the condition and impact of potential procedures. Norton Children’s Hospital is the first hospital in the region to use this technology.
  • We offer dedicated multidisciplinary clinics for brain tumors, traumatic brain injuries, spina bifida, craniofacial injuries and disorders, epilepsy, muscular dystrophy, spasticity, headache/migraine, autism and neurocutaneous disorders.
  • Our multidisciplinary craniofacial program was the first established in the Midwest.
  • We offer a neurogenetics clinic to evaluate and treat children with neurogenetic syndromes.
  • We have a neuropsychology program that specializes in the evaluation of children and teens with a variety of neurological, neurodevelopmental and medical conditions, including brain tumors and epilepsy.
  • Outpatient neurology facilities in downtown Louisville are equipped with in-office electroencephalography (EEG) capabilities and laboratory services in the same building, creating a streamlined, family-centered environment.
  • We offer the region’s first clinic to treat children with immune-mediated neurological disorders.

Debbie Gilbert, family advocate
Brittany Hornickel, nurse coordinator
Teresa Javier, Speech therapist
Lynn Lukins, physical therapist
Hannah Ragan, occupational therapist
Leah Todd, social worker
Jessica Waits, Muscular Dystrophy Association clinic coordinator

Neuroscience

Norton Children’s Neuroscience Institute

Connect with the Norton Children’s neurology team
(502) 588-3650

Connect with the Norton Children’s neurosurgery team
(502) 583-1697

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